Wiskott-Aldrich syndrome without mean platelet volume reduction: a case report / 中华围产医学杂志

ABSTRACT

We reported a case of full-term male neonate who was diagnosed with Wiskott-Aldrich syndrome(WAS) characterized by eczema, persistent thrombocytopenia and gastrointestinal bleeding (hematochezia). Serial blood tests showed decreased platelet count without platelet volume reduction. Treatment with human immunoglobulin and platelet transfusion turned out to be ineffective. A heterozygous mutation (c.121c>T) in WA S gene was detected. Moreover, his mother also had heterozygous mutation at the corresponding loci and was confirmed as a carrier. WAS should be considered in neonates presenting with unexplained thrombocytopenia even without mean platelet volume reduction and obvious immune deficiency.